Varaico: Literature-Extracted Genetic Variants

ARHGEF5

570 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G prote...

Pfam Domains

ARHGEF5_35aa 1–478UCSCRhoGEF 5/35 N-terminal disordered region

RhoGEFaa 1178–1356UCSCRhoGEF domain

PHaa 1390–1500UCSCPH domain

SH3_1aa 1517–1563UCSCSH3 domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 5

HGNC Alias Symbols

TIM; TIM1; GEF5; P60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005435.4

p.R989K

c.2966G>A

Surrounding Variants

2 papers

NM_005435.4

p.S957*

c.2870C>A

2 papers

NM_005435.4

p.S957*

c.2870C>G

1 paper

NM_005435.4

p.L945delFs

c.2833delC

1 paper

NM_005435.4

p.P1047S

c.3139C>T

1 paper

NM_005435.4

p.E1048Q

c.3142G>C

1 paper

NM_005435.4

p.D1052Splc

c.3154+2T>A

1 paper

NM_005435.4

p.R904S

c.2712A>C

1 paper

NM_005435.4

p.R904S

c.2712A>T

1 paper

NM_005435.4

p.P900L

c.2699C>T

1 paper

NM_005435.4

p.R895C

c.2683C>T

1 paper

NM_005435.4

p.P856S

c.2566C>T

1 paper

NM_005435.4

p.P848L

c.2543C>T